Literature DB >> 16857289

A golden age of human pigmentation genetics.

Richard A Sturm1.   

Abstract

The zebrafish golden mutation is characterized by the production of small and irregular-shaped melanin granules, resulting in a lightening of the pigmented lateral stripes of the animal. The recent positional cloning and localization of the golden gene, combined with genotype-phenotype correlations of alleles of its human orthologue (SLC24A5) in African-American and African-Caribbean populations, provide insights into the genetic and molecular basis of human skin colour. SLC24A5 promotes melanin deposition through maturation of the melanosome, highlighting the importance of ion-exchange in the function of this organelle.

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Year:  2006        PMID: 16857289     DOI: 10.1016/j.tig.2006.06.010

Source DB:  PubMed          Journal:  Trends Genet        ISSN: 0168-9525            Impact factor:   11.639


  18 in total

1.  A genome-wide scan study identifies a single nucleotide substitution in ASIP associated with white versus non-white coat-colour variation in sheep (Ovis aries).

Authors:  M-H Li; T Tiirikka; J Kantanen
Journal:  Heredity (Edinb)       Date:  2013-09-11       Impact factor: 3.821

2.  A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation.

Authors:  David L Duffy; Grant W Montgomery; Wei Chen; Zhen Zhen Zhao; Lien Le; Michael R James; Nicholas K Hayward; Nicholas G Martin; Richard A Sturm
Journal:  Am J Hum Genet       Date:  2006-12-20       Impact factor: 11.025

3.  OCA2 481Thr, a hypofunctional allele in pigmentation, is characteristic of northeastern Asian populations.

Authors:  Isao Yuasa; Kazuo Umetsu; Shinji Harihara; Aya Miyoshi; Naruya Saitou; Kyung Sook Park; Bumbein Dashnyam; Feng Jin; Gérard Lucotte; Prasanta K Chattopadhyay; Lotte Henke; Jürgen Henke
Journal:  J Hum Genet       Date:  2007-06-14       Impact factor: 3.172

4.  Application of six IrisPlex SNPs and comparison of two eye color prediction systems in diverse Eurasia populations.

Authors:  Libing Yun; Yan Gu; Haseena Rajeevan; Kenneth K Kidd
Journal:  Int J Legal Med       Date:  2014-01-07       Impact factor: 2.686

5.  The fibroblast-derived paracrine factor neuregulin-1 has a novel role in regulating the constitutive color and melanocyte function in human skin.

Authors:  Wonseon Choi; Rainer Wolber; Wolfram Gerwat; Tobias Mann; Jan Batzer; Christoph Smuda; Hongfang Liu; Ludger Kolbe; Vincent J Hearing
Journal:  J Cell Sci       Date:  2010-08-24       Impact factor: 5.285

6.  Genome-wide transcriptome analysis of human epidermal melanocytes.

Authors:  Kirk D Haltaufderhyde; Elena Oancea
Journal:  Genomics       Date:  2014-10-30       Impact factor: 5.736

7.  Pale and dark reddish melanic tawny owls differentially regulate the level of blood circulating POMC prohormone in relation to environmental conditions.

Authors:  Alexandre Roulin; Guillaume Emaresi; Pierre Bize; Julien Gasparini; Romain Piault; Anne-Lyse Ducrest
Journal:  Oecologia       Date:  2011-03-08       Impact factor: 3.225

Review 8.  Learning to Fish with Genetics: A Primer on the Vertebrate Model Danio rerio.

Authors:  Nathalia G Holtzman; M Kathryn Iovine; Jennifer O Liang; Jacqueline Morris
Journal:  Genetics       Date:  2016-07       Impact factor: 4.562

9.  A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color.

Authors:  Richard A Sturm; David L Duffy; Zhen Zhen Zhao; Fabio P N Leite; Mitchell S Stark; Nicholas K Hayward; Nicholas G Martin; Grant W Montgomery
Journal:  Am J Hum Genet       Date:  2008-01-24       Impact factor: 11.025

10.  Functional assessment of human coding mutations affecting skin pigmentation using zebrafish.

Authors:  Zurab R Tsetskhladze; Victor A Canfield; Khai C Ang; Steven M Wentzel; Katherine P Reid; Arthur S Berg; Stephen L Johnson; Koichi Kawakami; Keith C Cheng
Journal:  PLoS One       Date:  2012-10-10       Impact factor: 3.240

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